Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > S5488 > Z16294 > BY11121 > ZZ21 > BY32772 > BY57682

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19) POS-REF-ALT (hg38) Blocks Names Region McDonald BED combBED STRBigY3
20869252-C-T 18707366-C-T P4_Dst A*
17989847-T-C 15877967-T-C P7_Prx YA*
18013712-A-G 15901832-A-G P7_Dst YA*
18316105-T-A 16204225-T-A P6_Prx A*
18325475-A-G 16213595-A-G P6_Prx A*
18492998-A-T 16381118-A-T P6_Dst A*
19650861-T-A 17538981-T-A P5_Prx A*
19747076-A-ACTC 17635196-A-ACTC P5_Prx A*
19789846-C-T 17677966-C-T P5_Prx A*
19902589-A-G 17790709-A-G P5_Prx A*
20277187-T-C 18115301-T-C P5_Dst A*
20405535-C-T 18243649-C-T P5_Dst A*
20881025-C-T 18719139-C-T P4_Dst A*
26409443-C-T 24263296-C-T P1_Y1 A*
56834373-C-A A*
3115733-C-T 3247692-C-T FT47092 +
23296017-T-C 21134131-T-C FT48365 YY+
22443077-G-T 20281191-G-T 8831592-G-CFGC82874 DYZ19 +
11647901-G-A FT127796 +
17088092-G-T 14976212-G-T FT48024 Y+
16624649-G-A 14512769-G-A FT47973 Y+
2848308-CTATT-C 2980267-CTATT-C +
2989291-G-A 3121250-G-A FT47080 +
3543696-C-G 3675655-C-G FT47123 +
3700219-C-G 3832178-C-G FT47146 +
3702387-T-A 3834346-T-A FT47147 +
3791477-C-T 3923436-C-T FT47157 +
4013346-C-A 4145305-C-A FT47170 +
4013931-T-G 4145890-T-G FT47171 +
4091286-CT-C 4223245-CT-C +
5007033-A-G 5138992-A-G FT47294 +
5171190-CTG-C 5303149-CTG-C +
5177036-G-C 5308995-G-C FT47316 +
5324894-A-G 5456853-A-G FT47334 +
5648783-G-A 5780742-G-A FT47372 +
5687815-T-C 5819774-T-C +
5729732-A-T 5861691-A-T FT47385 +
7048858-C-T 7180817-C-T FT47496 YY+
7368743-C-T 7500702-C-T FT47525 YY+
10005964-T-G 10168355-T-G FT48484 Y+
10618279-T-G FT127798 +
13538923-A-T 11383247-A-T FT127797 +
13879018-G-C 11758312-G-C FT47722 Y+
13946249-G-A 11825543-G-A YY+
13974099-T-A 11853393-T-A FT47738 YY+
14427454-A-G 12306729-A-G FT47797 YY+
15586451-A-G 13474571-A-G FT47875 YY+
16054953-C-G 13943073-C-G FT47919 YY+
16133592-G-A 14021712-G-A FT282236 +
16302408-C-G 14190528-C-G FT47940 YY+
16324009-A-G 14212129-A-G FT47942 YY+
16353417-C-T 14241537-C-T FT47946 Y+
16478183-C-T 14366303-C-T FT47959 YY+
16505039-A-C 14393159-A-C FT47964 YY+
17805160-T-G 15693280-T-G FT48087 YY+
17963002-T-C 15851122-T-C FT48095 YY+
18382856-G-T 16270976-G-T FT48121 P6_Gap +
19061423-G-A 16949543-G-A FT48171 YY+
20820374-T-A 18658488-T-A FT283811 P4_Gap +
21836031-A-C 19674145-A-C FT48287 Y+
22263152-C-A 20101266-C-A FT453972 DYZ19 +
22466264-G-T 20304378-G-T FT458669 DYZ19 +
22512197-C-T 20350311-C-T FT460781 DYZ19 +
22709288-A-T 20547402-A-T FT48321 YY+
22748140-TC-T 20586254-TC-T +
22876317-C-T 20714431-C-T FT48334 YY+
6347814-GAGAAAGAA-G 6479773-GAGAAAGAA-G 12×AGAA*
8109742-A-ATACTAC 8241701-A-ATACTAC 12×TAC*
22237877-T-A 20075991-T-A DYZ19 *
25576996-A-G 23430849-A-G P1_gr1 *
27847756-G-GTA 25701609-G-GTA P1_Y2 **
20432864-A-ACT 18270978-A-ACT P5_Dst **
6267724-C-A 6399683-C-A IR3_Dst **
17081246-T-A 14969366-T-A FTA6039 **
3633779-G-A 3765738-G-A **
7498419-G-A 7630378-G-A IR1_L **
13469357-A-G 11313681-A-G **
13977243-C-G 11856537-C-G **
17164738-GT-G 15052858-GT-G **
17270216-T-A 15158336-T-A **
17632571-T-G 15520691-T-G FT291156 **
20652943-C-A 18491057-C-A P4_Prx **
21277513-T-C 19115627-T-C **
21417594-C-A 19255708-C-A **
28421647-CAAAA-C 26275500-CAAAA-C P1_gr2 15×A**
17794253-G-GTTCTTTCT 15682373-G-GTTCTTTCT 10×TTCT***
4848351-A-T 4980310-A-T FGC75441 FT321886 16×AT***
13329987-CTT-C 11174311-CTT-C 15×T***
13457786-G-A 11302110-G-A 4×ATTCC***
7248380-T-TA 7380339-T-TA 8×A***
11033137-G-GCATTCCATTC ***
13692411-T-G 11536735-T-G ***
4897963-CAA-C,CA 5029922-CAA-C,CA 20×A***
13222706-G-A 11067030-G-A ***
13322537-T-C 11166861-T-C ***
13419478-C-T 11263802-C-T ***
13469310-A-G 11313634-A-G ***
13469316-G-C 11313640-G-C ***
16616731-T-TAATTAA 14504851-T-TAATTAA ***
18057803-G-A 15945923-G-A ***
18057804-G-A 15945924-G-A ***
18057806-G-A 15945926-G-A ***
23825753-CA-C,CAA 21663867-CA-C,CAA 21×A***

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.

The combBED column indicates whether or not the mutation is a SNP and falls in the combBED region defined in Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data by Dmitry Adamov, Vladimir Guryanov, Sergey Karzhavin, Vladimir Tagankin, Vadim Urasin.

The McDonald BED column indicates whether or not the mutation is a SNP and falls in the BED region used by Dr. Iain McDonald in the age analysis he does for R-U106 men.